Hereditary Macular Diseases

You may be surprised to learn there is a difference between the labels of hereditary and genetic when trying to determine if you may be predisposed or at greater risk for certain diseases. Although these terms are used interchangeably, there is a difference. Genetics refers to the gene sequence in DNA that is part of every living cell controlling how cells will grow, divide or die. Diseases occur when one or more of these cells develop a mutation causing cells to grow uncontrollably. Hereditary refers to if these mutations are passed down from your mother or father. 

Researching your family history is a fun and informative hobby for most but it can play a crucial role in maintaining your health and preventing hereditary macular diseases. Some of these include albinism, age-related macular degeneration, glaucoma, cataracts, color-blindness, night blindness and retinitis pigmentosa. Age-related macular degeneration (AMD) is one of the leading causes of blindness in adults. While not all forms of age-related macular degeneration are hereditary, an estimated 15-20% of patients have a sibling or parent with the condition and the risk of developing late-stage AMD is 50% greater for those who have a close relative with AMD. Those with hereditary macular disease in the family are at 4 times greater risk of developing the condition themselves. 

More than 350 eye diseases are attributed to hereditary factors. Hereditary macular diseases encompass a wide range of retinal diseases brought on by either or both hereditary and genetic factors include Macular Degeneration, Stargardt’s disease, Fundus Flavimaculatus, Leber’s Congenital Amaurosis, Doyne Honeycomb Dystrophy, Bardet Biedl Syndrome, Stickler Disease, Wagner Disease, Goldman-Favretear, North Carolina Macular Dystrophy, Vitelliform Macular Dystrophy, Best Dystrophy, Pattern Dystrophies, Choroideremia, Familial Fleck Retina, Gyrate Atrophy, Congenital Stationary Night Blindness, Cone Disease, Cone-Rod disease, Congenital Stationary Night Blindness, Achromatopsia, Dominant Drusen, Refsum Disease, Batten Disease, Bassen-Kornzweig and Retinitis Pigmentosa.

If your eye doctor suspects you may have signs and symptoms of hereditary macular disease, the first step in the examination will be as detailed an account as possible of the patient’s medical history and family history. Patient history will include any change to vision, prescription glasses or contact lenses, and current and past medication. Family history will cover genetic relationships and medical disorders from close relatives as well as patterns of disease. The comprehensive eye exam will then include a dilated eye exam, visual acuity testing, slit lamp test, visual field testing, retinal imaging and possible genetic testing. 

Associated Retina Consultants strives to offer our patients the safest, up-to-date, and most effective therapies and treatment plans. Ensure the quality of your vision now and long term by scheduling an appointment either by 602-242-4928 or WEBSITE with one of our retina specialists today.

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